L12V (p.Leu12Val) variant of SDHAF2 (Q9NX18)
L12V (p.Leu12Val) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma. The record also includes published literature and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- rs2135436365
- ClinGen CA380680217
- ClinVar RCV003516999
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)